Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations

The nonlysosomal glucosylceramidase β2 (GBA2) catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the human GBA2 gene have been associated with hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia (ARCA), and the Marinesco-Sjögren–like syndrome. H...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Woeste, Marina A., Stern, Sina, Raju, Diana N., Grahn, Elena, Dittmann, Dominik, Gutbrod, Katharina, Dörmann, Peter, Hansen, Jan N., Schonauer, Sophie, Marx, Carina E., Hamzeh, Hussein, Körschen, Heinz G., Aerts, Johannes M. F. G., Bönigk, Wolfgang, Endepols, Heike, Sandhoff, Roger, Geyer, Matthias, Berger, Thomas K., Bradke, Frank, Wachten, Dagmar
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2019
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6422076/
https://ncbi.nlm.nih.gov/pubmed/30662006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.006311
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